Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 6, 2014, Pages 1381-1387.e7

  Meazza, Raffaella ^a   Tuberosa, Claudia ^a,b   Cetica, Valentina ^c,d   Falco, Michela ^e   Parolini, Silvia ^f   Grieve, Sam ^g   Griffiths, Gillian M ^g   Sieni, Elena ^c   Marcenaro, Stefania ^e   Micalizzi, Concetta ^e   Montin, Davide ^h   Fagioli, Franca ⁱ   Moretta, Alessandro ^b   Mingari, Maria C ^a,b   Moretta, Lorenzo ^e   Notarangelo, Luigi D ^j   Bottino, Cristina ^b,e   Aricò, Maurizio ^c,d   Pende, Daniela ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d ISTITUTO TOSCANO TUMORI   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITY OF BRESCIA   (Italy)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^j BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

2B4 function; HLH; NK cells; SAP expression; XLP1

Indexed keywords

SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; CD244 PROTEIN, HUMAN; IMMUNOGLOBULIN RECEPTOR; LEUKOCYTE ANTIGEN; SH2D1A PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; EPSTEIN BARR VIRUS INFECTION; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GENETIC MARKER; HEMOPHAGOCYTIC SYNDROME; HUMAN; LYMPHOCYTE; LYMPHOPROLIFERATIVE DISEASE; MALE; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; NATURAL KILLER T CELL; PERIPHERAL LYMPHOCYTE; PROTEIN EXPRESSION; SCREENING; SENSITIVITY AND SPECIFICITY; STOP CODON; X CHROMOSOME LINKED DISORDER; X LINKED LYMPHOPROLIFERATIVE DISEASE 1; GENETICS; IMMUNOLOGY; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOPROLIFERATIVE DISORDERS; MONONUCLEAR CELL; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ANTIGENS, CD; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KILLER CELLS, NATURAL; LEUKOCYTES, MONONUCLEAR; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOPROLIFERATIVE DISORDERS; MALE; MUTATION; RECEPTORS, IMMUNOLOGIC; YOUNG ADULT;

EID: 84919841275     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.04.043     Document Type: Article

References (38)

1. M. Arico, C. Danesino, D. Pende, and L. Moretta Pathogenesis of haemophagocytic lymphohistiocytosis Br J Haematol 114 2001 761 769
2. G. de Saint Basile, G. Menasche, and A. Fischer Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules Nat Rev Immunol 10 2010 568 579
3. E. Sieni, V. Cetica, A. Piccin, F. Gherlinzoni, F.C. Sasso, and M. Rabusin Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series PLoS One 7 2012 e44649
4. E. Sieni, V. Cetica, E. Mastrodicasa, D. Pende, L. Moretta, and G. Griffiths Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity Cell Mol Life Sci 69 2012 29 40
5. A.J. Coffey, R.A. Brooksbank, O. Brandau, T. Oohashi, G.R. Howell, and J.M. Bye Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene Nat Genet 20 1998 129 135
6. A.H. Filipovich, K. Zhang, A.L. Snow, and R.A. Marsh X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 116 2010 3398 3408
7. J.K. Hamilton, L.A. Paquin, J.L. Sullivan, H.S. Maurer, F.G. Cruzi, and A.J. Provisor X-linked lymphoproliferative syndrome registry report J Pediatr 96 1980 669 673
8. V. Schuster, and C. Terhorst X-linked lymphoproliferative disease due to defects of SH2D1A H.D. Ochs, C.I.E. Smith, J.M. Puck, Primary immunodeficiency diseases 2nd ed. 2007 Oxford University Press Cambridge, UK 470 484
9. J.L. Cannons, S.G. Tangye, and P.L. Schwartzberg SLAM family receptors and SAP adaptors in immunity Annu Rev Immunol 29 2011 665 705
10. S. Parolini, C. Bottino, M. Falco, R. Augugliaro, S. Giliani, and R. Franceschini X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells J Exp Med 192 2000 337 346
11. J. Sayos, C. Wu, M. Morra, N. Wang, X. Zhang, and D. Allen The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM Nature 395 1998 462 469
12. L. Dupre, G. Andolfi, S.G. Tangye, R. Clementi, F. Locatelli, and M. Arico SAP controls the cytolytic activity of CD8(+) T cells against EBV-infected cells Blood 105 2005 4383 4389
13. A.D. Hislop, U. Palendira, A.M. Leese, P.D. Arkwright, P.S. Rohrlich, and S.G. Tangye Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets Blood 116 2010 3249 3257
14. U. Palendira, C. Low, A. Chan, A.D. Hislop, E. Ho, and T.G. Phan Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP PLoS Biol 9 2011 e1001187
15. K.E. Nichols, C.S. Ma, J.L. Cannons, P.L. Schwartzberg, and S.G. Tangye Molecular and cellular pathogenesis of X-linked lymphoproliferative disease Immunol Rev 203 2005 180 199
16. C. Booth, K.C. Gilmour, P. Veys, A.R. Gennery, M.A. Slatter, and H. Chapel X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease Blood 117 2011 53 62
17. N. Rezaei, E. Mahmoudi, A. Aghamohammadi, R. Das, and K.E. Nichols X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma Br J Haematol 152 2011 13 30
18. N. Rezaei, M. Hedayat, A. Aghamohammadi, and K.E. Nichols Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies J Allergy Clin Immunol 127 2011 1329 1341
19. M. Arico, G. Janka, A. Fischer, J.I. Henter, S. Blanche, and G. Elinder Hemophagocytic lymphohistiocytosis: report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society Leukemia 10 1996 197 203
20. H. Trottestam, A. Horne, M. Aricò, R.M. Egeler, A.H. Filipovich, H. Gadner Histiocyte Society Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol Blood 118 2011 4577 4584
21. S. Marcenaro, F. Gallo, S. Martini, A. Santoro, G.M. Griffiths, and M. Arico Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease Blood 108 2006 2316 2323
22. Y.T. Bryceson, D. Pende, A. Maul-Pavicic, K.C. Gilmour, H. Ufheil, and T. Vraetz A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes Blood 119 2012 2754 2763
23. Y. Tabata, J. Villanueva, S.M. Lee, K. Zhang, H. Kanegane, and T. Miyawaki Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members Blood 105 2005 3066 3071
24. R.A. Marsh, J.J. Bleesing, and A.H. Filipovich Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency J Immunol Methods 362 2010 1 9
25. A. Soresina, V. Lougaris, S. Giliani, F. Cardinale, L. Armenio, and M. Cattalini Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency Eur J Pediatr 161 2002 656 659
26. A. Moretta, C. Bottino, M. Vitale, D. Pende, C. Cantoni, and M.C. Mingari Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis Annu Rev Immunol 19 2001 197 223
27. M. Arico, S. Imashuku, R. Clementi, S. Hibi, T. Teramura, and C. Danesino Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene Blood 97 2001 1131 1133
28. J. Sumegi, D. Huang, A. Lanyi, J.D. Davis, T.A. Seemayer, and A. Maeda Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease Blood 96 2000 3118 3125
29. R. Meazza, C. Tuberosa, V. Cetica, M. Falco, F. Loiacono, and S. Parolini XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells Eur J Immunol 44 2014 1526 1534
30. J.P. Dutz, L. Benoit, X. Wang, D.J. Demetrick, A. Junker, and D. de Sa Lymphocytic vasculitis in X-linked lymphoproliferative disease Blood 97 2001 95 100
31. R.A. Marsh, L. Madden, B.J. Kitchen, R. Mody, B. McClimon, and M.B. Jordan XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease Blood 116 2010 1079 1082
32. J. Sumegi, T.A. Seemayer, D. Huang, J.R. Davis, M. Morra, and T.G. Gross A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses Leuk Lymphoma 43 2002 1189 1201
33. U. Palendira, C. Low, A.I. Bell, C.S. Ma, R.J. Abbott, and T.G. Phan Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus J Exp Med 209 2012 913 924
34. M. Recher, A.J. Fried, M.J. Massaad, H.Y. Kim, M. Rizzini, and F. Frugoni Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia Clin Immunol 146 2013 84 89
35. B. Pasquier, L. Yin, M.C. Fondanèche, F. Relouzat, C. Bloch-Queyrat, and N. Lambert Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product J Exp Med 201 2005 695 701
36. K.E. Nichols, J. Hom, S.Y. Gong, A. Ganguly, C.S. Ma, and J.L. Cannons Regulation of NKT cell development by SAP, the protein defective in XLP Nat Med 11 2005 340 345
37. V. Schuster, W. Kress, W. Friedrich, T. Grimm, and H.W. Kreth X-Linked lymphoproliferative disease - detection of a paternally inherited mutation in a German family using haplotype analysis Am J Dis Children 147 1993 1303 1305
38. C. Rivat, C. Booth, M. Alonso-Ferrero, M. Blundell, N.J. Sebire, and A.J. Thrasher SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease Blood 121 2013 1073 1076